Preferred Language
Articles
/
g-ZKdZwBmraWrQ4dl0o4
Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
...Show More Authors

Objectives: This study aimed to identify and analyse ATP7B variants in Iraqi adults with Wilson disease (WD) by long-read next-generation sequencing. Methods: This cross-sectional study was conducted at the Poisoning Consultation Center at Ghazy Al-Hariri Hospital for Surgical Specialties and the Gastroenterology Consultation Clinic at Baghdad Teaching Hospital, Medical City in Baghdad, Iraq. Unrelated patients with clinical and biochemical features suggestive of WD were recruited between October 2022 and October 2023. DNA was extracted from peripheral blood samples. Variants in the ATP7B gene were identified using long-read next-generation sequencing and then analysed by in-silico tools. Results: A total of 45 patients were recruited in which 59 unique variants were detected; of them, 47 were deleterious, 9 were variants of uncertain significance (VUS) and 3 had a conflicting interpretation of pathogenicity. Those variants were detected in 80 out of 90 alleles of the ATP7B gene. Of the participants, 23 (51.1%) patients had 2 deleterious variants (8 in homozygous and 15 in compound heterozygous state); 12 (26.7%) patients had 1 deleterious variant plus 1 VUS or 1 with conflicting pathogenicity; and 10 (22.2%) patients were carriers of a single disease-causing variant. The most frequent variant, c.4021G>A (p.Gly1341Ser), was detected in 5 alleles, while c.3191A>C (p.Glu1064Ala) was detected in 4 alleles, followed by c.2165dupT (p.Arg723GlufsTer32) and c.3247C>T (p.Leu1083Phe), each detected in 3 alleles. Among the 59 variants, 42 were missense, 9 were frameshift, 6 were stop-gain, 2 were splice-donors and 1 was an in-frame deletion. The variant H1069Q, which is common worldwide, was not detected in this study. Conclusions: The ATP7B mutational spectrum in Iraqi patients with WD is significantly diverse, despite high rates of consanguinity. Evidence was provided for 8 variants to be considered for reclassification as deleterious. The diagnostic criteria for those with high Leipzig scores with only a single deleterious variant remain questionable.

Scopus
View Publication
Publication Date
Sun Jun 03 2012
Journal Name
Baghdad Science Journal
A Biochemical Study for Evaluation and Analysis of Serum Protein of Patients with Different Kidney Tumors
...Show More Authors

The amount of protein in the serum depends on the balance between the rate of its synthesis, and that of its catabolism or loss. Abnormal metabolism may result from nutritional deficiency, enzyme deficiency, abnormal secretion of hormones, or the actions of drugs and toxins. Renal cancer is the third most common malignancy of the genitourinary system, and accounts for 3% of adult malignancies globally. Total serum proteins were measured in malignant kidney tumor, benign kidney tumors, and non tumoral kidney diseases patient groups, as well as in healthy individuals. A significant decrease (p< 0.001) of total serum protein levels in patients with malignant kidney tumors when compared with those of benign tumors, non tumoral diseases, and hea

... Show More
View Publication Preview PDF
Crossref
Publication Date
Wed Sep 01 2021
Journal Name
Baghdad Science Journal
Bioremediation Potential of Chlorella vulgaris and Nostoc paludosum on azo Dyes with Analysis of Metabolite Changes
...Show More Authors

               Microalgae have been used widely in bioremediation processes to degrade or adsorb toxic dyes. Here, we evaluated the decolorization efficiency of Chlorella vulgaris and Nostoc paludosum against two toxic dyes, crystal violet (CV) and malachite green (MG). Furthermore, the effect of CV and MG dyes on the metabolic profiling of the studied algae has been investigated. The data showed that C. vulgaris was most efficient in decolorization of CV and MG: the highest percentage of decolorization was 93.55% in case of MG, while CV decolorization percentage was 62.98%. N. paludosum decolorized MG dye by 77.6%, and the decolorization percentage of CV was 35.1%. Metabolic profiling of

... Show More
View Publication Preview PDF
Scopus (17)
Crossref (7)
Scopus Clarivate Crossref
Publication Date
Tue Jun 23 2015
Journal Name
Internattiional Journal Of Pharma Sciences
Assessment of her2neu expression using immunohistochemistry in association with clinicopathological features and hormonal receptors in Iraqi breast cancer women patients
...Show More Authors

Seventy four Iraqi breast cancer paraffin blocks were collected from patients were attended to center health laboratory, histopathology department, Bagdad, Iraq. The patients information’s which included: name, age, and the pathological stage, grade, tumor size were obtained from the clinical records of the patients also relation with sex hormones was recorded. The cases which has been taken included invasive ductal and invasive lobular carcinoma type Women age were ranged from 24-80 years peak age frequency of tumor occurred in the category of more than 40 years old. Immunohistochemical expression of her-2/neu was from total 74 cases of infiltrative ductal carcinoma cases, 27(36.49%)were positive for Her-2/neu expression, 47(63.51%) were

... Show More
Preview PDF
Publication Date
Thu Nov 14 2024
Journal Name
Journal Of Emergency Medicine, Trauma And Acute Care
Isolation, optimization, and redesigning of phages of methicillin-resistant Staphylococcus aureus from clinical hospital isolates in Baghdad
...Show More Authors

Background: A global health concern is methicillin-resistant Staphylococcus aureus (MRSA). The use of bacteriophages is one of the many novel control strategies against MRSA that are frequently sought. However, it is quite challenging to isolate enough lytic anti-MRSA phages. In order to extract, optimize, and remodel anti-MRSA phages, this study sought novel approaches.

Methods: Two ATCC MRSA strains and nine clinical MRSA isolates were used to isolate wild anti-MRSA phages from hospital settings, dirt, and sewage. The wild phages were optimized using plaque-based biokinetic techniques. Usi

... Show More
View Publication
Scopus (1)
Crossref (1)
Scopus Crossref
Publication Date
Fri Jan 01 2021
Journal Name
Aip Conference Proceedings
Plasma levels and diagnostic utility of MMP-2 and TIMP-2 in the diagnosis of Iraqi women with breast tumor: A comparative study with Ca 15-3
...Show More Authors

Scopus Crossref
Publication Date
Fri Jan 01 2021
Journal Name
Aip Conference Proceedings
Plasma levels and diagnostic utility of MMP-2 and TIMP-2 in the diagnosis of Iraqi women with breast tumor: A comparative study with Ca 15-3
...Show More Authors

View Publication
Scopus Crossref
Publication Date
Tue Jan 01 2019
Journal Name
International Journal Of Advanced Computer Science And Applications
Achieving Flatness: Honeywords Generation Method for Passwords based on user behaviours
...Show More Authors

View Publication
Crossref (3)
Crossref
Publication Date
Sat Jun 01 2024
Journal Name
Journal Of Information Hiding And Multimedia Signal Processing
Upscale Gray Image using Mixing Transform Generation based on Tensor Product
...Show More Authors

The increased size of grayscale images or upscale plays a central role in various fields such as medicine, satellite imagery, and photography. This paper presents a technique for improving upscaling gray images using a new mixing wavelet generation by tensor product. The proposed technique employs a multi-resolution analysis provided by a new mixing wavelet transform algorithm to decompose the input image into different frequency components. After processing, the low-resolution input image is effectively transformed into a higher-resolution representation by adding a zeroes matrix. Discrete wavelets transform (Daubechies wavelet Haar) as a 2D matrix is used but is mixed using tensor product with another wavelet matrix’s size. MATLAB R2021

... Show More
Preview PDF
Scopus (2)
Scopus
Publication Date
Mon Jan 01 2024
Journal Name
Bio Web Of Conferences
Dynamic TWGH: Client-Server Optimization for Scalable Combinatorial Test Suite Generation
...Show More Authors

To ensure that a software/hardware product is of sufficient quality and functionality, it is essential to conduct thorough testing and evaluations of the numerous individual software components that make up the application. Many different approaches exist for testing software, including combinatorial testing and covering arrays. Because of the difficulty of dealing with difficulties like a two-way combinatorial explosion, this brings up yet another problem: time. Using client-server architectures, this research introduces a parallel implementation of the TWGH algorithm. Many studies have been conducted to demonstrate the efficiency of this technique. The findings of this experiment were used to determine the increase in speed and co

... Show More
View Publication
Scopus (2)
Crossref (1)
Scopus Crossref
Publication Date
Sun Jun 07 2015
Journal Name
Baghdad Science Journal
Determanation of Several Biochemical Parameters in Sera of Iraqi Patients with type 2 Diabetes
...Show More Authors

Diabetes mellitus, or simply diabetes, is a group of metabolic diseases in which a person has high blood sugar, either because the pancreas does not produce enough insulin, or because cells do not respond to the insulin that is produced. This high blood sugar produces the classical symptoms of polyuria (frequent urination), polydipsia (increased thirst), and polyphagia (increased hunger). The aim of the study is to measure several biochemical parameters in T2DM patients and the effect of these parameters in development the disease. Laboratory investigations including Ceruloplasmin , fasting blood glucose (FBG) , malondialdehyde (MDA), serum protein, uric acid, and protein electrophoresis have been measured in patients with type

... Show More
View Publication Preview PDF
Crossref